Literature DB >> 16501992

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

Gonul Tanir1, Figen Dogu, Nilden Tuygun, Aydan Ikinciogullari, Caner Aytekin, Cumhur Aydemir, Mutlu Yuksek, Esin Cengiz Boduroglu, Ludovic de Beaucoudrey, Claire Fieschi, Jacqueline Feinberg, Jean-Laurent Casanova, Emel Babacan.   

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Year:  2006        PMID： 16501992     DOI： 10.1007/s00431-005-0078-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.

Authors:  F Altare; A Durandy; D Lammas; J F Emile; S Lamhamedi; F Le Deist; P Drysdale; E Jouanguy; R Döffinger; F Bernaudin; O Jeppsson; J A Gollob; E Meinl; A W Segal; A Fischer; D Kumararatne; J L Casanova
Journal:  Science       Date:  1998-05-29       Impact factor: 47.728

2.  Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.

Authors:  Namik Ozbek; Claire Fieschi; Bafak T Yilmaz; Ludovic de Beaucoudrey; Beyhan Demirhan; Jacqueline Feinberg; Yunus Emre Bikmaz; Jean-Laurent Casanova
Journal:  Clin Infect Dis       Date:  2005-02-17       Impact factor: 9.079

3.  Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor.

Authors:  Dewton de Moraes-Vasconcelos; Anete S Grumach; Augusto Yamaguti; Maria Elisa B Andrade; Claire Fieschi; Ludovic de Beaucoudrey; Jean-Laurent Casanova; Alberto J S Duarte
Journal:  Clin Infect Dis       Date:  2005-07-15       Impact factor: 9.079

Review 4.  The role of interleukin-12 in human infectious diseases: only a faint signature.

Authors:  Claire Fieschi; Jean-Laurent Casanova
Journal:  Eur J Immunol       Date:  2003-06       Impact factor: 5.532

Review 5.  The human model: a genetic dissection of immunity to infection in natural conditions.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Nat Rev Immunol       Date:  2004-01       Impact factor: 53.106

6.  Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Authors:  Claire Fieschi; Stéphanie Dupuis; Emilie Catherinot; Jacqueline Feinberg; Jacinta Bustamante; Adrien Breiman; Frédéric Altare; Richard Baretto; Françoise Le Deist; Samer Kayal; Hartmut Koch; Darko Richter; Martin Brezina; Guzide Aksu; Phil Wood; Suliman Al-Jumaah; Miquel Raspall; Alberto José Da Silva Duarte; David Tuerlinckx; Jean-Louis Virelizier; Alain Fischer; Andrea Enright; Jutta Bernhöft; Aileen M Cleary; Christiane Vermylen; Carlos Rodriguez-Gallego; Graham Davies; Renate Blütters-Sawatzki; Claire-Anne Siegrist; Mohammad S Ehlayel; Vas Novelli; Walther H Haas; Jacob Levy; Joachim Freihorst; Sami Al-Hajjar; David Nadal; Dewton De Moraes Vasconcelos; Olle Jeppsson; Necil Kutukculer; Klara Frecerova; Isabel Caragol; David Lammas; Dinakantha S Kumararatne; Laurent Abel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2003-02-17       Impact factor: 14.307
  6 in total
  8 in total

1.  Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency.

Authors:  P P W Lee; L P Jiang; X C Wang; K W Chan; W W Tu; Y L Lau
Journal:  Eur J Pediatr       Date:  2007-03-27       Impact factor: 3.183

2.  Congenital IL-12R1β receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review.

Authors:  H H Akar; M Kose; O Ceylan; T Patiroglu; J Bustamante; J L Casanova; B N Akyildiz; S Doganay
Journal:  Eur J Microbiol Immunol (Bp)       Date:  2014-03-14

Review 3.  Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.

Authors:  Sayna Norouzi; Asghar Aghamohammadi; Setareh Mamishi; Sergio D Rosenzweig; Nima Rezaei
Journal:  J Infect       Date:  2012-03-16       Impact factor: 6.072

4.  Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency.

Authors:  E van de Vosse; T H M Ottenhoff; R A de Paus; E M Verhard; T de Boer; J T van Dissel; T W Kuijpers
Journal:  Infection       Date:  2010-03-05       Impact factor: 3.553

Review 5.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

6.  Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

Authors:  C Aytekin; F Dogu; N Tuygun; G Tanir; D Guloglu; S Boisson-Dupuis; J Bustamante; J Feinberg; J L Casanova; A Ikinciogullari
Journal:  J Investig Allergol Clin Immunol       Date:  2011       Impact factor: 4.333

7.  Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Authors:  Sigifredo Pedraza; Jose Luis Lezana; Arina Samarina; Ruth Aldana; Maria Teresa Herrera; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Perle Pages; Jean-Laurent Casanova; Capucine Picard
Journal:  Pediatrics       Date:  2010-09-20       Impact factor: 7.124

Review 8.  IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

Authors:  Esther van de Vosse; Margje H Haverkamp; Noe Ramirez-Alejo; Mónica Martinez-Gallo; Lizbeth Blancas-Galicia; Ayşe Metin; Ben Zion Garty; Çağman Sun-Tan; Arnon Broides; Roelof A de Paus; Özlem Keskin; Deniz Çağdaş; Ilhan Tezcan; Encarna Lopez-Ruzafa; Juan I Aróstegui; Jacov Levy; Francisco J Espinosa-Rosales; Özden Sanal; Leopoldo Santos-Argumedo; Jean-Laurent Casanova; Stephanie Boisson-Dupuis; Jaap T van Dissel; Jacinta Bustamante
Journal:  Hum Mutat       Date:  2013-08-08       Impact factor: 4.878
  8 in total

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